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NDUFB7  -  NADH dehydrogenase (ubiquinone) 1 beta...

Homo sapiens

Synonyms: B18, CI-B18, Cell adhesion protein SQM1, Complex I-B18, MGC2480, ...
 
 
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Disease relevance of NDUFB7

  • These phi torsion angles determined for membrane-bound B18 are consistent with a parallel beta-sheet secondary structure [1].
  • These data support the concept of CEA heterogeneity and the reactivity of the D14 and B18 monoclonal antibodies with colonic adenocarcinomas indicates that they are useful immunohistochemical probes [2].
  • Of the remaining subjects, two had evidence of the extended haplotype marked by B18/C4A3/C4BW*0/BfF1/DR3, which is present in less than 5% of the healthy population and has been associated with insulin-dependent diabetes mellitus [3].
  • RESULTS: Increased frequencies of HLA-A30 (16.7 vs. 3.8%; P < 0.01; OR = 5.05), A31 (9.5 vs. 1.9%; P < 0.05; OR = 5.72), B18 (31.7 vs. 14.3%; P < 0.05; OR = 2.78) and Cw7 (53.3 vs. 21.9%; P < 0.01; OR = 4.07) were observed in patients with pancreatic cancer in comparison to the control subjects [4].
  • This study suggests that although genetic factors may play a role in the multifactorial aetiology of multiple myeloma, with the exception of HLA B18, there is no specific association between HLA types and multiple myeloma in South African blacks [5].
 

Psychiatry related information on NDUFB7

  • The families were treated in the Hospital for Communication Disorders and selected for the HLA-B16 and B18 specificities, respectively [6].
 

High impact information on NDUFB7

  • The frequencies of HLA B8 and B18, which are in linkage disequilibrium with DRW3, were also increased [7].
  • Analysis of his genomic DNA demonstrated that he carried one type I C2D allele associated with the HLA-A25, B18, DR15 haplotype [8].
  • Linkage studies in this family suggested a close linkage between the C2 deficiency gene and genes coding for B18, Dw2, and BfS antigens [9].
  • Isotropic (13)C and (15)N chemical shift measurements showed that while B18 possesses a nonhelical and non-sheet-like structure in the crystalline state, the peptide adopts an oligomeric beta-sheet structure in the membrane in the presence of Zn(2+) ions at high peptide:lipid ratio [1].
  • Structural and dynamical changes of the bindin B18 peptide upon binding to lipid membranes. A solid-state NMR study [1].
 

Biological context of NDUFB7

  • Structural and dynamical features of the B18 peptide from the sea urchin sperm binding protein were determined in the crystalline state and in zwitterionic lipid bilayers at a peptide:lipid molar ratio of 1:12 using solid-state NMR spectroscopy [1].
  • HLA-B40, B18, B27, and B37 allele discrimination using group-specific amplification and SSCP method [10].
  • Histocompatibility testing of dialysis patients and their families revealed the serological presence of an unexpected Bw4 epitope associated with B18 in one patient and B56 in another [11].
  • We observed the downregulation of gene expression of three genes: heat-shock protein 27, DNA-binding protein TAX, and NADH-ubiquinone oxidoreductase B18 subunit [12].
  • Immunogenetic studies of the patient's four-generation kindred was consistent with an autosomal recessive inheritance of C2 deficiency genetically linked to HLA, segregating with the B18 allele [13].
 

Anatomical context of NDUFB7

 

Associations of NDUFB7 with chemical compounds

  • The study was focused on three (13)C and (15)N uniformly labeled leucine residues, which were introduced into three different B18 peptides at positions evenly distributed along the B18 primary structure [1].
  • Two of them, D14 and B18, were found to have a high degree of specificity for colonic carcinoma and did not react with formalin-fixed paraffin-embedded sections of normal colon with standardized staining conditions [2].
  • For mutants in which two histidines are replaced by serines, the affinity for the first Cu(2+) ion is reduced approximately 3-10 times in comparison with B18 [16].
  • For Cu(2+), we compared the metal binding affinities of the wild-type B18 peptide with those of its mutants in which one, two or three histidine residues have been replaced by serines [16].
  • For the other metal ions under investigation (Zn(2+), Mg(2+), Ca(2+), Mn(2+) and La(3+)), a modest affinity to B18 was detected binding to the peptide in a 1 : 1 stoichiometry [16].
 

Analytical, diagnostic and therapeutic context of NDUFB7

  • For these activities, B18 requires the presence of Zn2+ ions, with which it forms oligomeric complexes and assumes a partially alpha-helical conformation, as observed by circular dichroism [17].
  • The same HLA typing was found in each twin: A3, B18, B35, Cw4, DR2, DRw10, DQw1 [18].
  • Upon titration of B18 with Cu(2+) ions, we found sequential binding of two Cu(2+) ions with dissociation constants of approximately 34 and approximately 725 micro M [16].
  • HLA-B61-related, B18, B27, B37, and B60-related alleles were clearly discriminated in the SSCP analysis of the second PCR products [10].

References

  1. Structural and dynamical changes of the bindin B18 peptide upon binding to lipid membranes. A solid-state NMR study. Barré, P., Zschörnig, O., Arnold, K., Huster, D. Biochemistry (2003) [Pubmed]
  2. Characterization of monoclonal antibodies to carcinoembryonic antigen with increased tumor specificity. Jothy, S., Brazinsky, S.A., Chin-A-Loy, M., Haggarty, A., Krantz, M.J., Cheung, M., Fuks, A. Lab. Invest. (1986) [Pubmed]
  3. HLA associations with inclusion body myositis. Garlepp, M.J., Laing, B., Zilko, P.J., Ollier, W., Mastaglia, F.L. Clin. Exp. Immunol. (1994) [Pubmed]
  4. Human leukocyte antigens as genetic markers in Greek patients with sporadic pancreatic cancer. Kouerinis, I.A., Zografos, G., Tarassi, K.E., Athanasiades, T.H., Liontos, M., Gorgoulis, V.G., Korkolis, D., Konstandoulakis, M.M., Fotiadis, C.I., Androulakis, G., Papasteriades, C.A. Pancreas (2004) [Pubmed]
  5. HLA class I and class II antigens associated with multiple myeloma in southern Africa. Patel, M., Wadee, A.A., Galpin, J., Gavalakis, C., Fourie, A.M., Kuschke, R.H., Philip, V. Clinical and laboratory haematology. (2002) [Pubmed]
  6. Early onset sensorineural hearing loss: association studies with major histocompatibility class III (complement) markers. Steuer, M.K., Gross, M., Matthias, R., Mauff, G. The American journal of otology. (1990) [Pubmed]
  7. Strong association between idiopathic membranous nephropathy and HLA-DRW3. Klouda, P.T., Manos, J., Acheson, E.J., Dyer, P.A., Goldby, F.S., Harris, R., Lawler, W., Mallick, N.P., Williams, G. Lancet (1979) [Pubmed]
  8. A novel type II complement C2 deficiency allele in an African-American family. Zhu, Z.B., Atkinson, T.P., Volanakis, J.E. J. Immunol. (1998) [Pubmed]
  9. Familial discoid lupus erythematosus associated with heterozygote C2 deficiency. Belin, D.C., Bordwell, B.J., Einarson, M.E., McLean, R.H., Weinstein, A., Yunis, E.J., Rothfield, N.F. Arthritis Rheum. (1980) [Pubmed]
  10. HLA-B40, B18, B27, and B37 allele discrimination using group-specific amplification and SSCP method. Bannai, M., Tokunaga, K., Lin, L., Ogawa, A., Fujisawa, K., Juji, T. Hum. Immunol. (1996) [Pubmed]
  11. Unexpected Bw4 and Bw6 reactivity patterns in new alleles. Voorter, C.E., van der Vlies, S., Kik, M., van den Berg-Loonen, E.M. Tissue Antigens (2000) [Pubmed]
  12. Identification of genes responsive to BPDE treatment in HeLa cells using cDNA expression assays. Yu, Z., Ford, B.N., Glickman, B.W. Environ. Mol. Mutagen. (2000) [Pubmed]
  13. Hereditary C2 deficiency associated with cutaneous lupus erythematosus: clinical, laboratory, and genetic studies. Levy, S.B., Pinnell, S.R., Meadows, L., Snyderman, R., Ward, F.E. Archives of dermatology. (1979) [Pubmed]
  14. HLA-B18 is associated with decreased levels of isoproterenol-stimulated cAMP in lymphocytes. Erickson, R.P., Pairitz, G.L., Karolyi, J.M., Kapur, J.J., Odenheimer, D.J., Schultz, J.S., Sing, C.F. Am. J. Hum. Genet. (1985) [Pubmed]
  15. Loss of an HLA haplotype in pancreas cancer tissue and its corresponding tumor derived cell line. Torres, M.J., Ruiz-Cabello, F., Skoudy, A., Berrozpe, G., Jimenez, P., Serrano, A., Real, F.X., Garrido, F. Tissue Antigens (1996) [Pubmed]
  16. Evaluation of the metal binding properties of a histidine-rich fusogenic peptide by electrospray ionization Fourier transform ion cyclotron resonance mass spectrometry. Sinz, A., Jin, A.J., Zschörnig, O. Journal of mass spectrometry : JMS. (2003) [Pubmed]
  17. Membrane fusion is induced by a distinct peptide sequence of the sea urchin fertilization protein bindin. Ulrich, A.S., Otter, M., Glabe, C.G., Hoekstra, D. J. Biol. Chem. (1998) [Pubmed]
  18. Susceptibility to subacute thyroiditis is genetically influenced: familial occurrence in identical twins. Rubin, R.A., Guay, A.T. Thyroid (1991) [Pubmed]
 
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